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Analysis of institutional authors

Gavela-Perez TAuthorVillacampa-Aubá JmAuthorSoriano-Guillén LCorresponding Author

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Análisis del rendimiento de la secuenciación del exoma clínico en hipogonadismo hipogonadotropo congénito teniendo en cuenta el grado de alteración del olfato

Publicated to:Anales De Pediatria. 97 (4): 247-254 - 2022-10-01 97(4), DOI: 10.1016/j.anpedi.2021.01.020

Authors: Ortiz Cabrera, Nelmar Valentina; Gavela-Pérez, Teresa; Mejorado Molano, Francisco Javier; Santillán Coello, Jessica Mire; Villacampa Auba, José Miguel; Trujillo Tiebas, María José; Soriano Guillén, L

Affiliations

Hosp Infantil Univ Nino Jesus, Serv Genet, Madrid, Spain - Author
Hospital Infantil Universitario Niño Jesús de Madrid - Author
Univ Autonoma Madrid, Inst Invest Sanit, Serv Otorrinolaringol, Fdn Jimenez Diaz, Madrid, Spain - Author
Univ Autonoma Madrid, Inst Invest Sanitaria, Serv Genet, Fdn Jimenez Diaz, Madrid, Spain - Author
Univ Autonoma Madrid, Inst Invest Sanitaria, Serv Pediat, Fdn Jimenez Diaz, Madrid, Spain - Author
Universidad Autónoma de Madrid - Author
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Abstract

Introduction: Congenital hypogonadotropic hypogonadism (CHH) can present alone or in association with anosmia or other congenital malformations. More than 30 genes have been identified as being involved in the pathogenesis of CHH with different patterns of inheritance, and the increasing availability of next generation sequencing (NGS) has increased the diagnostic yield. Methods: We analysed the diagnostic yield of NGS in patients with CHH using the clinical exome filtered with virtual panels. We also assessed whether designing panels based on the presence/absence of microsmia increased the diagnostic yield. Results: The use of a 34-gene virtual panel confirmed the diagnosis of CHH in 5 out of 9 patients (55%). In 2 out of 9 (22%), the findings were inconclusive. Applying the presence/absence of microsmia criterion to choose genes for analysis did not improve the diagnostic yield. Conclusions: The approach to the genetic study of patients with CHH varies depending on the resources of each healthcare facility, so the sensitivity of testing may vary substantially depending on whether panels, clinical exome sequencing or whole exome sequencing (WES) are used. The analysis of every genes related to CHH regardless of the presence/absence of microsmia seems to be the best approach.

Keywords

clinical exome sequencinggeneticshipogonadismo hipogonadotropohypogonadotropic hypogonadismkallmann syndromemutationspubertal delayretraso puberalsecuenciación del exoma clínicoupdateClinical exome sequencingHypogonadotropic hypogonadismKallmann syndromeKallmann-syndromePubertal delaySíndrome de kallmann

Quality index

Bibliometric impact. Analysis of the contribution and dissemination channel

The work has been published in the journal Anales De Pediatria, and although the journal is classified in the quartile Q3 (Agencia WoS (JCR)), its regional focus and specialization in Pediatrics, give it significant recognition in a specific niche of scientific knowledge at an international level.

Independientemente del impacto esperado determinado por el canal de difusión, es importante destacar el impacto real observado de la propia aportación.

Según las diferentes agencias de indexación, el número de citas acumuladas por esta publicación hasta la fecha 2025-06-13:

  • WoS: 1
  • Scopus: 2
  • OpenCitations: 1

Impact and social visibility

From the perspective of influence or social adoption, and based on metrics associated with mentions and interactions provided by agencies specializing in calculating the so-called "Alternative or Social Metrics," we can highlight as of 2025-06-13:

  • The use, from an academic perspective evidenced by the Altmetric agency indicator referring to aggregations made by the personal bibliographic manager Mendeley, gives us a total of: 6.
  • The use of this contribution in bookmarks, code forks, additions to favorite lists for recurrent reading, as well as general views, indicates that someone is using the publication as a basis for their current work. This may be a notable indicator of future more formal and academic citations. This claim is supported by the result of the "Capture" indicator, which yields a total of: 7 (PlumX).

With a more dissemination-oriented intent and targeting more general audiences, we can observe other more global scores such as:

  • The Total Score from Altmetric: 0.25.
  • The number of mentions on the social network X (formerly Twitter): 1 (Altmetric).

It is essential to present evidence supporting full alignment with institutional principles and guidelines on Open Science and the Conservation and Dissemination of Intellectual Heritage. A clear example of this is:

  • The work has been submitted to a journal whose editorial policy allows open Open Access publication.
  • Additionally, the work has been submitted to a journal classified as Diamond in relation to this type of editorial policy.
  • Assignment of a Handle/URN as an identifier within the deposit in the Institutional Repository: https://repositorio.uam.es/handle/10486/704884

Leadership analysis of institutional authors

There is a significant leadership presence as some of the institution’s authors appear as the first or last signer, detailed as follows: Last Author (SORIANO GUILLEN, LEANDRO).

the author responsible for correspondence tasks has been SORIANO GUILLEN, LEANDRO.